Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

scientific article published on 9 July 2015

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

External links are
P356DOI10.1016/J.AJHG.2015.06.003
P932PMC publication ID4573270
P698PubMed publication ID26166481

P50authorArnold MunnichQ2863363
Stanislas LyonnetQ7598948
Valérie Cormier-DaireQ28321938
Tania Attié-BitachQ28322360
Michel VekemansQ28322364
Sophie SaunierQ28322375
Christine Bôle-FeysotQ28354378
Caroline AlbyQ30170322
Françoise Clerget-DarpouxQ30501400
Patrick NitschkéQ45929076
Celine HuberQ57167171
Sophie ThomasQ79318101
Mathilde NizonQ87994766
Marine LegendreQ89413428
Nadia ElkhartoufiQ114438719
Bettina BessièresQ117252660
Ferechté Encha-RavaziQ117252672
Amale IchkouQ117252702
P2093author name stringLaurence Faivre
Kevin Piquand
Meriem Garfa-Traore
Hajnalka Szabó
László Sztriha
Nicole Laurent
Fanny Pelluard
Salima El Chehadeh-Djebbar
André Megarbané
Georges Abi-Tayeh
Marion Failler
Melinda Zombor
P2860cites workTCTN3 mutations cause Mohr-Majewski syndromeQ24295300
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndromeQ24308784
Centriole distal appendages promote membrane docking, leading to cilia initiationQ24310904
The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formationQ24316483
The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assemblyQ24319889
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesQ24625476
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeQ24680812
CP110 and its network of partners coordinately regulate cilia assemblyQ28000138
Generation of mice with functional inactivation of talpid3, a gene first identified in chickenQ28592864
Mutations of CEP83 cause infantile nephronophthisis and intellectual disabilityQ34000871
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesQ34183496
The chicken talpid3 gene encodes a novel protein essential for Hedgehog signalingQ34653671
Targeted mutation of the talpid3 gene in zebrafish reveals its conserved requirement for ciliogenesis and Hedgehog signalling across the vertebratesQ35445369
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.Q37360655
Ciliary disorder of the skeletonQ38026010
Clinical genetics and pathobiology of ciliary chondrodysplasias.Q38288347
Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid3 ciliopathy mutant.Q41819809
Estimating the age of rare disease mutations: the example of Triple-A syndrome.Q43073641
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.Q53174375
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectpolydactylyQ371520
short rib – polydactyly syndromeQ4420146
P304page(s)311-318
P577publication date2015-07-09
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleMutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
P478volume97

Reverse relations

cites work (P2860)
Q57149575A distal centriolar protein network controls organelle maturation and asymmetry
Q48937473A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome
Q38802675A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Q39552140An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.
Q52098087Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.
Q64115593CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis
Q63681390Cellular ciliary phenotyping indicates pathogenicity of novel variants in and confirms a Mainzer-Saldino syndrome diagnosis
Q38994215Ciliopathies
Q37281697Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome
Q55003855Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.
Q46609776Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Q39429623Genes and molecular pathways underpinning ciliopathies
Q29147558IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome
Q93146892Identification of novel mutations in preaxial polydactyly patients through whole-exome sequencing
Q92692779Mice with a conditional deletion of Talpid3 (KIAA0586) - a model for Joubert syndrome
Q39012190Motile and non-motile cilia in human pathology: from function to phenotypes
Q37235765Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
Q37747558Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
Q29147550Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
Q88869535Neurocristopathies: New insights 150 years after the neural crest discovery
Q39176551Photoreceptor Cilia and Retinal Ciliopathies
Q39018423Primary Cilia and Mammalian Hedgehog Signaling
Q47228439Primary cilia proteins: ciliary and extraciliary sites and functions.
Q39178653Sonic Hedgehog Signaling in Limb Development
Q94545038Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report
Q94521055TALPID3 and ANKRD26 selectively orchestrate FBF1 localization and cilia gating
Q40522835TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
Q36874254Tethering of an E3 ligase by PCM1 regulates the abundance of centrosomal KIAA0586/Talpid3 and promotes ciliogenesis
Q48113259The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance.
Q89809828The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review

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